Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications.

Although Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary hypertension-PH) following surgery for congenital cardiac communications, many DS patients do surprising well postoperatively. We prospectively analyzed perioperative factors for a possible correlation with post-cardiopulmonary bypass (CPB) inflammatory reaction and postoperative PH in pediatric subjects. Sixty patients were enrolled (age 3 to 35 months), 39 of them with DS. Clinical and echocardiographic parameters (anatomical and hemodynamic) were computed preoperatively. Pulmonary and systemic mean arterial pressures (PAP and SAP) were assessed invasively intra and postoperatively. Immediate postoperative PAP/SAP ratio (PAP/SAPIPO) and the behavior of pressure curves were selected as primary outcome. Serum levels of 36 inflammatory proteins were measured by chemiluminescence preoperatively and 4 h post CPB. Of all factors analyzed, peripheral oxygen saturation (O2Sat, bedside assessment) was the only preoperative predictor of PAP/SAPIPO at multivariate analysis (p = 0.007). Respective values in non-DS, DS/O2Sat ≥ 95% and DS/O2Sat < 95% subgroups were 0.34 (0.017), 0.40 (0.027) and 0.45 (0.026), mean (SE), p = 0.004. The difference between non-DS and DS groups regarding postoperative PAP curves (upward shift in DS patients, p = 0.015) became nonsignificant (p = 0.114) after adjustment for preoperative O2Sat. Post-CPB levels of at least 5 cytokines were higher in patients with O2Sat < 95% versus those at or above this level, even within the DS group (p < 0.05). Thus, a baseline O2Sat < 95% representing pathophysiological phenomena in the airways and the distal lung, rather than DS in a broad sense, seems to be associated with post-CPB inflammation and postoperative PH in these patients.

Eficacia y seguridad de la prótesis valvular pulmonar percutánea para el tratamiento de pacientes pediátricos con antecedente de malformación congénita e historia de cirugía reconstructiva del tracto de salida del ventrículo derecho que presentan regurgitación valvular pulmonar / Efficacy and safety of percutaneous pulmonary valve prosthesis for the treatment of pediatric patients with a history of congenital malformation and history of reconstructive surgery of the right ventricular outflow tract who present pulmonary valve regurgitation

ANTECEDENTES: En el marco de la metodología ad hoc para evaluar solicitudes de tecnologías sanitarias, aprobada mediante Resolución de Instituto de Evaluación de Tecnologías en Salud e Investigación N° 111-IETSI-ESSALUD-2021, se ha elaborado el presente dictamen, el cual expone la evaluación de la eficacia y seguridad de la prótesis valvular pulmonar percutánea (PVPP) para el tratamiento pacientes pediátricos con antecedente de malformación congénita e historia de cirugía reconstructiva del tracto de salida del ventrículo derecho (TSVD) que presentan regurgitación valvular pulmonar. De este modo, el Dr. Miguel Arboleda Torres, siguiendo la Directiva N° 001-IETSI-ESSALUD-2018, envió al Instituto de Evaluación de Tecnologías en Salud e Investigación (IETSI) la solicitud de aprobación del dispositivo médico PVPP. ASPECTOS GENERALES: Aproximadamente un 10 % de pacientes con malformaciones cardiacas congénitas poseen alteraciones anatómicas que obstruyen el tracto de salida del ventrículo derecho (TSVD), el cual conecta el ventrículo derecho del corazón y la arteria pulmonar. La malformación congénita más común que afecta al TSVD es la tetralogía de Fallot y se estima que el 90 % de los pacientes con esta patología son sometidos a una cirugía a corazón abierto durante la infancia temprana para reconstruir el TSVD (que se encuentra obstruido o estrecho [estenótice. Por lo general, la reconstrucción se realiza mediante la colocación de un parche, una prótesis o un conducto entre el ventrículo derecho y la arteria pulmonar. No obstante, con el transcurrir de los años, estos pacientes desarrollan anormalidades de la válvula pulmonar, lo que requiere que se sometan a nuevas intervenciones quirúrgicas para reemplazarla por una prótesis valvular (Alkashkari et al., 2018; Gutiérrez-Larraya et al., 2021, p.). METODOLOGÍA: Se llevó a cabo una búsqueda bibliográfica exhaustiva con el objetivo de identificar la mejor evidencia sobre la eficacia y seguridad del reemplazo valvular pulmonar percutáneo empleando el dispositivo PVPP. La búsqueda bibliográfica se realizó en las bases de datos PubMed, The Cochrane Library y LILACS. Asimismo, se realizó una búsqueda manual dentro de las páginas web pertenecientes a grupos que realizan evaluación de tecnologías sanitarias (ETS) y guías de práctica clínica (GPC) incluyendo el National Institute for Health and Care Excellence (NICE), Canadian Agency for Drugs and Technologies in Health (CADTH), Scottish Medicines Consortium (SMC), Scottish Intercollegiate Guidelines Network (SIGN), Institute for Clinical and Economic Review (ICER), El Instituto de Calidad y Eficiencia en la Atención de la Salud (IQWiG, por sus siglas en alemán), la Base Regional de Informes de Evaluación de Tecnologías en Salud de las Américas (BRISA), la OMS, el Ministerio de Salud del Perú (MINSA) y el Instituto de Evaluación de Tecnologías en Salud e Investigación (IETSI). Además, se realizó una búsqueda de GPC de las principales sociedades o instituciones especializadas en cardiología y cirugía torácica, tales como: American Heart Association (AHA), American College of Cardiology (ACC), European Society of Cardiology (ESC), European Association for Cardio-Thoracic Surgery (EACTS), y la Sociedad Española de Cardiología. Finalmente, se realizó una búsqueda en ClinicalTrials.govpara identificar ensayos clínicos aleatorizados (ECA) en curso o que no hayan sido publicados aún. RESULTADOS: Luego de la búsqueda bibliográfica hasta noviembre del 2021, no se identificaron ECA que compararan las tecnologías de interés. Además, tampoco se encontraron guías de práctica clínica (GPC), evaluaciones de tecnología sanitaria (ETS), revisiones sistemáticas (RS), ni estudios realizados en población pediátrica exclusivamente. En consecuencia, se consideró la inclusión de evidencia científica con una población mixta (adultos y niños) que respondiera a la pregunta PICO. Así, se incluyeron dos GPC (Baumgartner et al., 2021; National Institute for Health and Care Excellence, 2013), dos revisiones sistemáticas (Ribeiro et al., 2020; Zhou et al., 2019), y dos estudios observacionales comparativos que no se encontraban incluidos en ninguna de las dos RS previas (Hribernik et al., 2021; OuYang et al., 2020). CONCLUSIÓN: Por lo expuesto, el IETSI aprueba el uso de prótesis de válvula pulmonar de inserción percutánea en pacientes pediátricos con antecedente de malformación cardiaca congénita e historia de cirugía reconstructiva del tracto de salida del ventrículo derecho que presenten una regurgitación valvular pulmonar moderada a severa, según lo establecido en el Anexo N° 1. La vigencia del presente dictamen preliminar es de un año a partir de la fecha de publicación y la continuación de dicha aprobación estará sujeta a la evaluación de los resultados obtenidos y de mayor evidencia que pueda surgir en el tiempo.

Parent-Reported Symptoms and Perceived Effectiveness of Treatment in Children Hospitalized with Advanced Heart Disease.

OBJECTIVE: To characterize parent-reported symptom burden and effectiveness of symptom management in children hospitalized with advanced heart disease. STUDY DESIGN: Prospective survey study of 161 parents whose child was admitted to a single institution with advanced heart disease between March 2018 and February 2019 using the Survey about Caring for Children with Heart Disease. RESULTS: Of the 161 patients, 54% were under 2 years old with a diagnosis of single ventricle physiology (39%), pulmonary hypertension (12%), and other congenital heart disease (28%). Over one-half (56%) of parents reported that their child was experiencing a high degree ("a great deal"/"a lot") of symptoms. The most frequently reported symptoms were pain (68%), fatigue (63%), and breathing difficulties (60%). Of the symptoms that were treated, parents perceived successful treatment to be least likely for their child's sleep disturbance (24%), depression (29%), and fatigue (35%). Parents who reported their child's functional status as New York Heart Association class III/IV were more likely to report that their child was experiencing "a great deal" of symptoms, compared with those who reported class I/II (51% vs 19%, P < .001). Parents who reported their child was experiencing a high degree of suffering from fatigue were also more likely to report a high symptom burden (P < .001). CONCLUSIONS: Parents of children with advanced heart disease reported high symptom burden with a broad spectrum of symptoms. Parents reported fatigue and psychiatric symptoms frequently and rarely reported treatment as successful. Parents' view of their child's symptom burden was concordant with their perception of their child's functional status.

Growth and Nutritional Intake of Infants with Univentricular Circulation.

OBJECTIVES: To evaluate the nutritional status and early nutritional intake of infants with univentricular congenital heart disease. STUDY DESIGN: The included infants underwent a Norwood procedure or hybrid intervention (stage 1) within the first 6 weeks of life, between January 2014 and January 2019, at Children's Health Ireland at Crumlin. Demographic, anthropometric, nutritional intake, and morbidity data were collected. RESULTS: Data were collected on 90 infants and 1886 neonatal admission days. There was a significant drop in mean weight-for-age z-score (WAZ) between measurements at birth, -0.01 and on discharge post stage 1 surgery -1.45 (P < .01). On hospital discharge (median hospital stay, 25 days) 32% of infants had a WAZ <-2 and 11% had a WAZ <-3. Pre-stage 1, 26% received trophic feeds and 39% received parenteral nutrition. Basal metabolic requirements and target caloric intake (120 kcal/kg) were met on 56% and 13% of admission days, respectively. Infants referred to a dietitian had a shorter time to any form of nutrition support, enteral feeds, and target caloric intake (P < .001, P = .016, and P = .048, respectively). At stage 3 (Fontan) surgery, 15% of infants were classified as stunted (length-for-age z-score [LAZ] <-2). CONCLUSIONS: The greatest decline in nutritional status occurs in the neonatal period, followed by significant growth stunting by the time of the Fontan procedure. Early involvement of dietitians is critical in the care of this nutritionally fragile group. With the currently low rate of preoperative nutritional support, there may be opportunities to improve intake at this critical stage.

A Multi-Interventional Nutrition Program for Newborns with Congenital Heart Disease.

OBJECTIVE: To evaluate how outcomes changed in newborns undergoing surgery for congenital heart disease after implementation of a standardized preoperative and postoperative nutrition program. STUDY DESIGN: We performed a single-center cohort study of newborns who underwent cardiac surgery between September 2008 and July 2015. We evaluated growth and feeding outcomes in the 2 years of preprogram time (phase 0), in the 2 years after initiation of a postoperative feeding algorithm (phase 1), and in the 2 years following introduction of a preoperative feeding program (phase 2) using traditional statistics and quality improvement methods. RESULTS: The study included 570 newborns with congenital heart disease. Weight-for-age z-score change from birth to hospital discharge significantly improved from phase 0 (-1.02 [IQR, -1.45 to -0.63]) to phase 1 (-0.83 [IQR, -1.25 to -0.54]; P = .006), with this improvement maintained in phase 2 (-0.89 [IQR, -1.30 to -0.56]; P = .017 across phases). Gastrostomy tube use decreased significantly (25% in phase 0 vs 12% and 14% in phases 1 and 2; P < .001) and preoperative enteral feeding increased significantly (47% and 46% in phases 0 and 1 vs 76% in phase 2; P < .001) without increases in necrotizing enterocolitis, hospital stay, or mortality. CONCLUSIONS: Introduction of a multi-interventional nutrition program was associated with improved weight gain, fewer gastrostomy tubes at hospital discharge, and increased preoperative enteral feeding without increases in necrotizing enterocolitis, hospital stay, or mortality.

Standardized Feeding Approach Mitigates Weight Loss in Infants with Congenital Heart Disease.

OBJECTIVE: To evaluate the effect of a standardized feeding approach using a clinical nutrition pathway on weight-for-age Z score (WAZ) over hospital length of stay (HLOS) for infants with congenital heart disease (CHD). STUDY DESIGN: A 10-year retrospective cohort study examined eligible infants who underwent neonatal cardiac surgery between July 2009 and December 2018 (n = 987). Eligibility criteria included infants born at least 37 weeks of gestation and a minimum birth weight of 2 kg who underwent cardiac surgery for CHD within the first 30 days of life. Using the best linear unbiased predictions from a linear mixed effects model, WAZ change over HLOS was estimated before and after January 2013, when the standardized feeding approach was initiated. The best linear unbiased predictions model included adjustment for patient characteristics including sex, race, HLOS, and class of cardiac defect. RESULTS: The change in WAZ over HLOS was significantly higher from 2013 to 2018 than from 2009 to 2012 (ß = 0.16; SE = 0.02; P < .001), after controlling for sex, race, HLOS, and CHD category, indicating that infants experienced a decreased WAZ loss over HLOS after the standardized feeding approach was initiated. Additionally, differences were found in WAZ loss over HLOS between infants with single ventricle CHD (ß = 0.26; SE = 0.04; P < .001) and 2 ventricle CHD (ß = 0.04; SE = 0.02; P = .04). CONCLUSIONS: These data suggest that an organized, focused approach for nutrition therapy using a standardized pathway improves weight change outcomes before hospital discharge for infants with single and 2 ventricle CHD who require neonatal cardiac surgery.

Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review. / Síndrome de Edwards con cardiopatía congénita de larga supervivencia: reporte de caso y revisión de literatura.

Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurological systems. Its genetics are varied, presenting both in a complete and mosaic type. Survival rarely exceeds the first year of life. Its phenotype characterization is not pathognomonic, so karyotype is essential for diagnosis, prenatally by amniocentesis and cordocentesis by FISH technique. We present the case of an eight-year-old girl who has survived with this condition despite presenting tetralogy of Fallot and serious cardiac malformations. Diagnosis began with prenatal screening ultrasound at 16 weeks and detailed ultrasound, with amniocentesis and amniotic fluid karyotype, with a result of 47 XX+18. She has been treated by multiple medical specialties, due to musculoskeletal, joint, neurological, metabolic, and cardiovascular complications that have limited her quality of life. The management of these patients requires a multidisciplinary medical team, and counseling for parents should include aspects related to survival, frequent complications, and risk-benefit to be evaluated before subjecting the minor to complex or corrective surgical interventions.

El síndrome de Edwards o trisomía 18 es una entidad compleja, con afectaciones en los sistemas musculoesquelético, craneofacial, cardiovascular y neurológico. Su genética es variada, presentándose tanto de manera completa como en mosaicismo. Es infrecuente que la supervivencia supere el primer año de vida. Su caracterización fenotípica no es patognomónica, por lo cual el cariotipo es fundamental para el diagnóstico prenatal por medio de amniocentesis y cordocentesis mediante técnica de hibridación fluorescente in situ. Se presenta el caso de una paciente de ocho años que ha sobrevivido con esta condición, a pesar de presentar tetralogía de Fallot acompañada de malformaciones cardíacas graves. El diagnóstico comenzó por ecografía de tamizaje prenatal a las 16 semanas y ecografía de detalle, con amniocentesis y cariotipo de líquido amniótico, con resultado 47 XX+18. Ha sido tratada por múltiples especialidades médicas, debido a complicaciones osteomusculares, articulares, neurológicas, metabólicas y cardiovasculares que han limitado su calidad de vida. El manejo de estos pacientes requiere un equipo médico multidisciplinario. La consejería a los padres debe incluir aspectos relativos a la sobrevida, complicaciones frecuentes y riesgo-beneficio a evaluar antes de someter al menor a intervenciones quirúrgicas complejas o correctivas.

Macrophage migration inhibitory factor and chemokine RANTES in young pediatric patients with congenital cardiac communications: Relation to hemodynamic parameters and the presence of Down syndrome.

Inflammation and immunity are central in the pathobiology of pulmonary vascular disorders. Preliminary headway has been made in understanding the relationships between inflammatory proteins and clinical parameters in pediatric congenital heart disease. In this study, we analyzed serum levels of macrophage migration inhibitory factor (MIF) and regulated on activation normal T cell expressed and secreted chemokine (RANTES) in 87 patients with unrestrictive congenital cardiac communications and signs of pulmonary hypertension (age 2-36 months) and 50 pediatric controls. They were investigated in relation to clinical and hemodynamic parameters and the presence of Down syndrome. Hemodynamics was assessed by transthoracic Doppler echocardiography and cardiac catheterization. Chemokines were analyzed in serum using a chemiluminescence assay. The highest MIF levels were observed in very young subjects with heightened pulmonary vascular resistance but who presented a positive response to vasodilator challenge with inhaled nitric oxide. In contrast, RANTES levels were higher in patients with pulmonary overcirculation and congestion, correlating nonlinearly with pulmonary blood flow. Levels of both chemokines were higher in subjects with Down syndrome than in nonsyndromic individuals, but the difference was observed only in patients, not in the control group. In patients with Down syndrome, there was a direct relationship between preoperative serum MIF and the level of pulmonary artery pressure observed 6 months after surgical repair of cardiac anomalies. Thus, it was interesting to observe that MIF, which is key in the innate immune response and chemokine RANTES, which is highly expressed in respiratory viral infections were related to clinical and hemodynamic abnormalities associated with pediatric congenital heart disease.

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More recently, an article describing a set of affected siblings was published. We describe three, previously unreported, patients showing clinical variability for this newly defined syndrome. The major features determined by "reverse phenotyping" include significant to profound developmental delays/intellectual disability with absent or delayed speech, epilepsy, ocular abnormalities, cleft lip and/or palate, congenital heart disease, urogenital anomalies, skeletal abnormalities, brain malformations and/or microcephaly, failure to thrive, and dysmorphic features. The authors suggest the delineation of an acronym using the gene name and common features seen across the majority of patients reported so far. This new nomination, MED-DOCS, may help clinicians to recognize, suspect, and remember this novel syndrome.

Congenital heart disease in children: Orofacial myofunctional aspects, eating behavior and facial temperature.

OBJECTIVE: To characterize the eating behavior, orofacial, speech myofunctional conditions, and facial temperature of children with congenital heart disease. METHOD: This is a cross-sectional and analytical study. The sample consisted of 30 children with heart disease (cyanotic or acyanotic; mean of 5.48 ± 0.84 years old) and 28 healthy children (4.98 ± 0.64 years old). Parents were given a questionnaire to assess eating behaviors (Montreal Children's Hospital Feeding Scale). The orofacial myofunctional assessment protocol (OMES-E), the Child Language Test (ABFW), and thermography infrared of facial temperature were used. Data analysis was conducted by student's t-tests, Chi-square, logistic regression, and correlation analysis. RESULTS: Eating behavior in Parents did not perceive eating behavior differences between the heart disease and control groups. However, the percentage of children with some feeding difficulty was higher in the heart disease group. There was a difference between groups regarding the appearance and posture of structures, the mobility of the mandibular and cheek, swallowing function, and the total function score. Thermographic variables did not differ between the groups, but better performance in orofacial functions correlated with the temperature of the labial commissure and lower lip points. CONCLUSIONS: The frequency of children with eating difficulties was higher among those with congenital heart disease, as was the increased facial temperature at the medial eyelid commissions point when submitted to interventional procedures. The orofacial myofunctional aspects showed changes in posture and position, mobility, and orofacial functions among children with heart disease as compared to the control group. There was a correlation between the temperature of the thermo-anatomical points of the labial commissure and the lower lip as well as the OMES-E function score.

Clinically Asymptomatic Sleep-Disordered Breathing in Infants with Single-Ventricle Physiology.

OBJECTIVES: To assess clinically asymptomatic infants with single-ventricle physiology (SVP) for sleep-disordered breathing (SDB) in the supine and car seat positions using polysomnography. Polysomnography results also were compared with results of a standard Car Seat Challenge to measure the dependability of the standard Car Seat Challenge. STUDY DESIGN: This was an observational study of 15 infants with SVP. Polysomnography data included Obstructive Index, Central Index, Arousal Index, Apnea Hypopnea Index, and sleep efficiency. Polysomnography heart rate and oxygen saturation data were used to compare polysomnography with the standard Car Seat Challenge. RESULTS: Polysomnography demonstrated that all 15 infants had SDB and 14 had obstructive sleep apnea (Obstructive Index ≥1/hour) in both the supine and car seat positions. Infants with SVP had a statistically significant greater median Obstructive Index in the car seat compared with supine position (6.3 vs 4.2; P = .03), and median spontaneous Arousal Index was greater in the supine position compared with the car seat (20.4 vs 15.2; P = .01). Comparison of polysomnography to standard Car Seat Challenge results demonstrated 5 of 15 (33%) of infants with SVP with abnormal Obstructive Index by polysomnography would have passed a standard Car Seat Challenge. CONCLUSIONS: Infants with SVP without clinical symptoms of SDB may be at high risk for SDB that appears worse in the car seat position. The standard Car Seat Challenge is not dependable in the identification of infants with SVP and SDB. Further studies are warranted to further delineate its potential impact of SDB on the clinical outcomes of infants with SVP.

Multimodality imaging of the anomalous origin of the right pulmonary artery from the ascending aorta in an adult (hemitruncus arteriosus).

Anomalous origin of the pulmonary artery branches is a rare phenomenon. We describe a case of an adult with anomalous origin of the right pulmonary artery (hemitruncus arteriosus) associated with patent ductus arteriosus. Non-invasive imaging studies played an important role in the diagnosis and follow-up. Angiography allowed to determine the severity of pulmonary hypertension. He underwent surgical closure of patent ductus arteriosus, redirection of right pulmonary artery and atrioseptostomy with decrease of the pulmonary pressure in the follow-up. A high index of clinical suspicion of this entity is required in adults with heart failure, recurrent hemoptysis and pulmonary hypertension, because it could go unnoticed.

Children with Congenital Heart Disease Are Active but Need to Keep Moving: A Cross-Sectional Study Using Wrist-Worn Physical Activity Trackers.

OBJECTIVE: To compare daily physical activity of children with congenital heart disease (CHD) with healthy peers measured using wearables bracelets in a large cohort. Additionally, subjectively estimated and objectively measured physical activity was compared. STUDY DESIGN: From September 2017 to May 2019, 162 children (11.8 ± 3.2 years; 60 girls) with various CHD participated in a self-estimated and wearable-based physical activity assessment. Step-count and moderate-to-vigorous physical activity were recorded with the Garmin vivofit jr. for 7 consecutive days and compared with a reference cohort (RC) of 96 healthy children (10.9 ± 3.8 years; 49 girls). RESULTS: Children with CHD were active and 123 (75.9%) achieved 60 minutes physical activity on a weekly average according to the World Health Organization criteria as 81 (84.3%) of the healthy peers did (P = .217). After correction for age, sex, and seasonal effects, only slightly lower step count (CHD: 10 206 ± 3178 steps vs RC: 11 142 ± 3136 steps; P = .040) but no lower moderate-to-vigorous physical activity (CHD: 80.5 ± 25.6 minutes/day vs RC: 81.5 ± 25.3 minutes/day; P = .767) occurred comparing CHD with RC. In children with CHD higher age (P = .004), overweight or obesity (P = .016), complex severity (P = .046), and total cavopulmonary connection (P = .027) were associated with not meeting World Health Organization criteria. Subjective estimation of daily moderate-to-vigorous physical activity was fairly correct in half of all children with CHD. CONCLUSIONS: Even though the majority is sufficiently active, physical activity needs to be promoted in overweight or obese patients, patients with complex CHD severity, and in particular in those with total cavopulmonary connection.

Síndrome de Edwards con cardiopatía congénita de larga supervivencia: reporte de caso y revisión de literatura / Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review

El síndrome de Edwards o trisomía 18 es una entidad compleja, con afectaciones en los sistemas musculoesquelético, craneofacial, cardiovascular y neurológico. Su genética es variada, presentándose tanto de manera completa como en mosaicismo. Es infrecuente que la supervivencia supere el primer año de vida. Su caracterización fenotípica no es patognomónica, por lo cual el cariotipo es fundamental para el diagnóstico prenatal por medio de amniocentesis y cordocentesis mediante técnica de hibridación fluorescente in situ. Se presenta el caso de una paciente de ocho años que ha sobrevivido con esta condición, a pesar de presentar tetralogía de Fallot acompañada de malformaciones cardíacas graves. El diagnóstico comenzó por ecografía de tamizaje prenatal a las 16 semanas y ecografía de detalle, con amniocentesis y cariotipo de líquido amniótico, con resultado 47 XX+18. Ha sido tratada por múltiples especialidades médicas, debido a complicaciones osteomusculares, articulares, neurológicas, metabólicas y cardiovasculares que han limitado su calidad de vida. El manejo de estos pacientes requiere un equipo médico multidisciplinario. La consejería a los padres debe incluir aspectos relativos a la sobrevida, complicaciones frecuentes y riesgo-beneficio a evaluar antes de someter al menor a intervenciones quirúrgicas complejas o correctivas.

Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurological systems. Its genetics are varied, presenting both in a complete and mosaic type. Survival rarely exceeds the first year of life. Its phenotype characterization is not pathognomonic, so karyotype is essential for diagnosis, prenatally by amniocentesis and cordocentesis by FISH technique. We present the case of an eight-year-old girl who has survived with this condition despite presenting tetralogy of Fallot and serious cardiac malformations. Diagnosis began with prenatal screening ultrasound at 16 weeks and detailed ultrasound, with amniocentesis and amniotic fluid karyotype, with a result of 47 XX+18. She has been treated by multiple medical specialties, due to musculoskeletal, joint, neurological, metabolic, and cardiovascular complications that have limited her quality of life. The management of these patients requires a multidisciplinary medical team, and counseling for parents should include aspects related to survival, frequent complications, and risk-benefit to be evaluated before subjecting the minor to complex or corrective surgical interventions.

Pregnancy in Women with Complex Congenital Heart Disease. A Constant Challenge / Gravidez em Portadoras de Cardiopatias Congênitas Complexas: Um Constante Desafio

Abstract Background: The improvement in surgical techniques has contributed to an increasing number of childbearing women with complex congenital heart disease (CCC). However, adequate counseling about pregnancy in this situation is uncertain, due to a wide variety of residual cardiac lesions. Objectives: To evaluate fetal and maternal outcomes in pregnant women with CCC and to analyze the predictive variables of prognosis. Methods: During 10 years we followed 435 consecutive pregnancies in patients (pts) with congenital heart disease. Among of them, we selected 42 pregnancies in 40 (mean age of 25.5 ± 4.5 years) pts with CCC, who had been advised against pregnancy. The distribution of underlying cardiac lesions were: D-Transposition of the great arteries, pulmonary atresia, tricuspid atresia, single ventricle, double-outlet ventricle and truncus arteriosus. The surgical procedures performed before gestation were: Fontan, Jatene, Rastelli, Senning, Mustard and other surgical techniques, including Blalock, Taussing, and Glenn. Eight (20,0%) pts did not have previous surgery. Nineteen 19 (47.5%) pts had hypoxemia. The clinical follow-up protocol included oxygen saturation recording, hemoglobin and hematocrit values; medication adjustment to pregnancy, anticoagulation use, when necessary, and hospitalization from 28 weeks, in severe cases. The statistical significance level considered was p < 0.05. Results: Only seventeen (40.5%) pregnancies had maternal and fetal uneventful courses. There were 13 (30.9%) maternal complications, two (4.7%) maternal deaths due to hemorrhage pos-partum and severe pre-eclampsia, both of them in women with hypoxemia. There were 7 (16.6%) stillbirths and 17 (40.5%) premature babies. Congenital heart disease was identified in two (4.1%) infants. Maternal and fetal complications were higher (p < 0.05) in women with hypoxemia. Conclusions: Pregnancy in women with CCC was associated to high maternal and offspring risks. Hypoxemia was a predictive variable of poor maternal and fetal outcomes. Women with CCC should be advised against pregnancy, even when treated in specialized care centers.

Resumo Fundamento: A contínua habilidade na conduta das cardiopatias congênitas complexas (CCC) tem permitido o alcance da idade fértil. Contudo, a heterogeneidade das lesões cardíacas na idade adulta limita a estimativa do prognóstico da gravidez. Objetivo: Estudar a evolução materno-fetal das gestantes portadoras de CCC e analisar as variáveis presumíveis de prognóstico. Método: No período de 10 anos, 435 gestantes portadoras de cardiopatias congênitas foram consecutivamente incluídas no Registro do Instituto do Coração (Registro-InCor). Dentre elas, foram selecionadas 42 gestações em 40 mulheres com CCC (24,5 ± 3,4 anos) que haviam sido desaconselhadas a engravidar. As cardiopatias de base distribuíram-se em: transposição das grandes artérias, atresia pulmonar, atresia tricúspide, ventrículo único, dupla via de saída de ventrículo direito, dupla via de entrada de ventrículo esquerdo e outras lesões estruturais. As cirurgias realizadas foram Rastelli, Fontan, Jatene, Senning, Mustard e outros procedimentos combinados, como tunelização, Blalock Taussing e Glenn. Oito pacientes (20%) não haviam sido operadas, e 19 (47,5%) apresentavam hipoxemia. O protocolo de atendimento incluiu: registro da saturação de oxigênio, hemoglobina sérica, hematócrito, ajuste das medicações, anticoagulação individualizada e hospitalização a partir de 28 semanas de gestação, em face da gravidade do quadro clínico e obstétrico. Na análise estatística, o nível de significância adotado foi de 0,05. Resultado: Somente 17 gestações (40,5%) não tiveram complicações maternas nem fetais. Houve 13 problemas maternos (30,9%) e 2 mortes (4,7%) causadas por hemorragia pós-parto e pré-eclâmpsia grave, ambas em pacientes que apresentavam hipoxemia. Houve 7 perdas fetais (16,6%), 17 bebês prematuros (40,5%) e 2 recém-nascidos (4,7%) com cardiopatia congênita. As complicações materno-fetais foram significativamente maiores em pacientes que apresentavam hipoxemia (p < 0,05). Conclusão: O alcance da idade reprodutiva em pacientes com CCC é crescente; contudo, a má evolução materno-fetal desaconselha a gravidez, particularmente nas pacientes que apresentam hipoxemia.

Del soplo inocente a la hipertensión arterial pulmonar / From an innocent heart murmur to pulmonary arterial hypertension

Resumen Introducción: La detección de cardiopatías congénitas en la etapa neonatal a partir de un soplo cardiaco o cianosis no es efectiva. Las cardiopatías congénitas críticas, como el tronco arterioso común (TAC), causan la mayoría de las muertes neonatales por malformaciones congénitas. El tamizaje por oximetría de pulso en los recién nacidos detecta hasta el 70% de estas cardiopatías. El TAC presenta una alta mortalidad en el primer año de vida. Caso clínico: Se presenta el caso de un paciente de sexo femenino de 4 años de edad con soplo cardiaco, palpitaciones, disnea y cianosis perioral, con diagnóstico al nacimiento de soplo inocente. Se detectó TAC mediante una ecocardiografía. Las resistencias vasculares pulmonares fueron evaluadas por medio de cateterismo cardiaco derecho, con hallazgo de hipertensión arterial pulmonar y vasorreactividad pulmonar. Se realizó corrección quirúrgica. A la fecha, la hipertensión arterial pulmonar continúa presente, por lo que se implementó Bosentan® (Actelion, USA) como tratamiento a largo plazo. Conclusiones: En recién nacidos, el tamizaje por oximetría de pulso después de las 24 horas de vida es un método efectivo para el diagnóstico oportuno de cardiopatías congénitas críticas antes de los signos de colapso cardiovascular. Por ello, resulta una herramienta diagnóstica fundamental para reducir la morbimortalidad. Aunque la corrección quirúrgica de cardiopatías congénitas con hipertensión arterial pulmonar es factible en algunos pacientes, su manejo subsecuente es complejo e impacta de manera adversa en la calidad de vida.

Abstract Background: The detection of congenital heart disease in newborns, based on a heart murmur or cyanosis is not effective. Critical congenital heart diseases, such as truncus arteriosus (TA), cause most of neonatal deaths due to congenital malformations. The screening for pulse oximetry in newborns detects up to 70% of these heart diseases. TA presents high mortality in the first year of life. Case report: A 4-year-old female patient with a heart murmur, palpitations, dyspnea, and perioral cyanosis was diagnosed with an innocent heart murmur at birth. TA was detected by echocardiography. Pulmonary vascular resistances were evaluated through right cardiac catheterization, and pulmonary arterial hypertension and pulmonary vasoreactivity were diagnosed as well. Surgical correction was performed. Currently, pulmonary arterial hypertension persists, for which Bosentan® (Actelion, USA) has been implemented as a long-term treatment. Conclusions: In newborns, the pulse oximetry screening after 24 hours of life is an effective method for suitable diagnosis of critical congenital heart disease before the signs of cardiovascular collapse. Therefore, it has become an essential diagnostic tool to reduce morbidity and mortality. Although the surgical correction of congenital heart disease with pulmonary arterial hypertension is feasible in some patients, its subsequent management is complex and has an adverse impact on the quality of life.

From an innocent heart murmur to pulmonary arterial hypertension.

Background: The detection of congenital heart disease in newborns, based on a heart murmur or cyanosis is not effective. Critical congenital heart diseases, such as truncus arteriosus (TA), cause most of neonatal deaths due to congenital malformations. The screening for pulse oximetry in newborns detects up to 70% of these heart diseases. TA presents high mortality in the first year of life. Case report: A 4-year-old female patient with a heart murmur, palpitations, dyspnea, and perioral cyanosis was diagnosed with an innocent heart murmur at birth. TA was detected by echocardiography. Pulmonary vascular resistances were evaluated through right cardiac catheterization, and pulmonary arterial hypertension and pulmonary vasoreactivity were diagnosed as well. Surgical correction was performed. Currently, pulmonary arterial hypertension persists, for which Bosentan® (Actelion, USA) has been implemented as a long-term treatment. Conclusions: In newborns, the pulse oximetry screening after 24 hours of life is an effective method for suitable diagnosis of critical congenital heart disease before the signs of cardiovascular collapse. Therefore, it has become an essential diagnostic tool to reduce morbidity and mortality. Although the surgical correction of congenital heart disease with pulmonary arterial hypertension is feasible in some patients, its subsequent management is complex and has an adverse impact on the quality of life.

Introducción: La detección de cardiopatías congénitas en la etapa neonatal a partir de un soplo cardiaco o cianosis no es efectiva. Las cardiopatías congénitas críticas, como el tronco arterioso común (TAC), causan la mayoría de las muertes neonatales por malformaciones congénitas. El tamizaje por oximetría de pulso en los recién nacidos detecta hasta el 70% de estas cardiopatías. El TAC presenta una alta mortalidad en el primer año de vida. Caso clínico: Se presenta el caso de un paciente de sexo femenino de 4 años de edad con soplo cardiaco, palpitaciones, disnea y cianosis perioral, con diagnóstico al nacimiento de soplo inocente. Se detectó TAC mediante una ecocardiografía. Las resistencias vasculares pulmonares fueron evaluadas por medio de cateterismo cardiaco derecho, con hallazgo de hipertensión arterial pulmonar y vasorreactividad pulmonar. Se realizó corrección quirúrgica. A la fecha, la hipertensión arterial pulmonar continúa presente, por lo que se implementó Bosentan® (Actelion, USA) como tratamiento a largo plazo. Conclusiones: En recién nacidos, el tamizaje por oximetría de pulso después de las 24 horas de vida es un método efectivo para el diagnóstico oportuno de cardiopatías congénitas críticas antes de los signos de colapso cardiovascular. Por ello, resulta una herramienta diagnóstica fundamental para reducir la morbimortalidad. Aunque la corrección quirúrgica de cardiopatías congénitas con hipertensión arterial pulmonar es factible en algunos pacientes, su manejo subsecuente es complejo e impacta de manera adversa en la calidad de vida.

Pregnancy in Women with Complex Congenital Heart Disease. A Constant Challenge.

BACKGROUND: The improvement in surgical techniques has contributed to an increasing number of childbearing women with complex congenital heart disease (CCC). However, adequate counseling about pregnancy in this situation is uncertain, due to a wide variety of residual cardiac lesions. OBJECTIVES: To evaluate fetal and maternal outcomes in pregnant women with CCC and to analyze the predictive variables of prognosis. METHODS: During 10 years we followed 435 consecutive pregnancies in patients (pts) with congenital heart disease. Among of them, we selected 42 pregnancies in 40 (mean age of 25.5 ± 4.5 years) pts with CCC, who had been advised against pregnancy. The distribution of underlying cardiac lesions were: D-Transposition of the great arteries, pulmonary atresia, tricuspid atresia, single ventricle, double-outlet ventricle and truncus arteriosus. The surgical procedures performed before gestation were: Fontan, Jatene, Rastelli, Senning, Mustard and other surgical techniques, including Blalock, Taussing, and Glenn. Eight (20,0%) pts did not have previous surgery. Nineteen 19 (47.5%) pts had hypoxemia. The clinical follow-up protocol included oxygen saturation recording, hemoglobin and hematocrit values; medication adjustment to pregnancy, anticoagulation use, when necessary, and hospitalization from 28 weeks, in severe cases. The statistical significance level considered was p < 0.05. RESULTS: Only seventeen (40.5%) pregnancies had maternal and fetal uneventful courses. There were 13 (30.9%) maternal complications, two (4.7%) maternal deaths due to hemorrhage pos-partum and severe pre-eclampsia, both of them in women with hypoxemia. There were 7 (16.6%) stillbirths and 17 (40.5%) premature babies. Congenital heart disease was identified in two (4.1%) infants. Maternal and fetal complications were higher (p < 0.05) in women with hypoxemia. CONCLUSIONS: Pregnancy in women with CCC was associated to high maternal and offspring risks. Hypoxemia was a predictive variable of poor maternal and fetal outcomes. Women with CCC should be advised against pregnancy, even when treated in specialized care centers.

Comparative Analysis of Myocardial Protection with HTK Solution and Hypothermic Hyperkalemic Blood Solution in the Correction of Acyanogenic Congenital Cardiopathies - A Randomized Study.

OBJECTIVE: The goal of the present study was to compare the myocardial protection obtained with histidine-tryptophan-ketoglutarate (HTK) cardioplegic solution (Custodiol®) and with intermittent hypothermic blood solution. METHODS: Two homogenous groups of 25 children with acyanotic congenital heart disease who underwent total correction with mean aortic clamping time of 60 minutes were evaluated in this randomized study. Troponin and creatine kinase-MB curves, vasoactive-inotropic score, and left ventricular function were obtained by echocardiogram in each group. The values were correlated and presented through graphs and tables after adequate statistical treatment. RESULTS: It was observed that values of all the studied variables varied over time, but there was no difference between the groups. CONCLUSION: We conclude that in patients with acyanotic congenital cardiopathies submitted to total surgical correction, mean aortic clamping time around one hour, and cardiopulmonary bypass with moderate hypothermia, the HTK crystalloid cardioplegic solution offers the same myocardial protection as the cold-blood hyperkalemic cardioplegic solution analyzed, according to the variables considered in our study model.